Variant #0000881133 (NC_000019.9:g.15303059C>T, NOTCH3(NM_000435.2):c.391G>A)

Individual ID 00419470
Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.15303059C>T
DNA change (hg38) g.15192248C>T
Published as -
ISCN -
DB-ID NOTCH3_000402
Variant remarks ACMG PM1, PM2, PP2, PP3
Reference PubMed: Marinakis 2021
ClinVar ID -
dbSNP ID rs767150916
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Jan Traeger-Synodinos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-10-20 16:24:48 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH3 NM_000435.2 +?/. - c.391G>A r.(?) p.(Gly131Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000420774 DNA SEQ;SEQ-NG - WES - 1 Jan Traeger-Synodinos